title: Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.
abstract: Ritscher-Schinzel syndrome (cranio-cerebello-cardiac syndrome, 3C syndrome) is a recently delineated disorder with Dandy-Walker malformation, congenital heart defects, and characteristic face. Various other defects, including eye and kidney malformations, have been described in the few patients reported. Here we describe 3 sibs born to consanguineous Pakistani parents with 3C syndrome. All 3 children had atrial septal defects II and ventricular septal defects and died within 3 months. Two of them had a Dandy-Walker malformation, whereas 1 had only slightly dilated ventricles. One sib had anal atresia, and another a ventrally displaced anus. The findings in the 3 sibs demonstrate the intrafamilial variation in the Ritscher-Schinzel syndrome, because the second sib did not have a Dandy-Walker malformation. Anal anomalies have not been previously reported as a component manifestation of the disorder. The occurrence of 3 affected sibs in a consanguineous family confirms autosomal recessive inheritance.
authors.affiliation: Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway. k.h.orstavik@basalmed.uio.no
authors.forename: K H
authors.initials: KH
authors.lastname: Orstavik
authors.forename: A G
authors.initials: AG
authors.lastname: Bechensteen
authors.forename: D
authors.initials: D
authors.lastname: Fugelseth
authors.forename: W
authors.initials: W
authors.lastname: Orderud
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities*; D001842:Bone and Bones / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D013577:Syndrome